European Journal of Translational Myology最新文献

Skeletal muscle tissue acts as a functional unit for physical movements, energy metabolism, thermogenesis, and metabolic homeostasis. In this literature review, the underlying mechanisms of skeletal muscle atrophy and the prevention strategies, including vigorous training and nutritional modifications are focused. Furthermore, the comparative analysis of multiple interventions is briefly explained. Ageing is an inevitable process often associated with cognitive impairment and physical decline due to muscular atrophy. Skeletal muscle atrophy is characterized by low muscle mass due to multiple underlying factors, i.e., genetic predisposition, ageing, inflammation, and trauma. The structural alterations include myofiber shrinkage, changes in myosin isoforms, decrease in myofiber diameter, and total protein loss. Furthermore, there is an imbalance in protein anabolic and catabolic reactions. This may be due to changes in multiple signal transduction pathways of protein degradation (i.e., caspase, calpain, ubiquitin protein degradation system, autophagy) and protein anabolism via the mTOR pathway. Consequently, certain pathophysiological factors associated with health disparities may reduce mobility and functional capacity to perform ADLs. To tackle this issue, novel strategies linked to physical movement, and dietary intake must be incorporated in life. Exercise poses multiple health benefits, including improved muscle mass and mobility. Diet diversification [particularly protein-rich meals] and the "whole food" approach (based on non-protein nutrients) may enhance intramuscular anabolic signaling and tissue remodeling. However, there is a pressing need to fund large-scale evidence-based trials based on modern machine learning techniques (AI-driven nutrition). Additionally, entrepreneurial platforms for commercialization of consumer-friendly food products must be initiated in future.

Traumatic Brain Injury (TBI) is the leading cause of injury-related death worldwide. In recent years, Virtual Reality (VR) has emerged as a promising diagnostic and treatment tool capable of improving Cognitive Function (CF) after TBI. We sought to review the literature on this issue systematically. Web of Science, PubMed and PsycINFO were screened for relevant literature. Only randomized control trials whereby TBI-affected individuals underwent VR training and control groups received standard rehabilitative care were included. Screening, quality appraisal and data extraction were conducted by independent reviewers using a standardized protocol. Six studies of ~300 participants met the inclusion criteria and showed that both groups improved their overall CF post-intervention. However, non-immersive and semi-immersive VR groups had markedly better scores in all of the cognitive domains measured when compared to non-VR groups. VR is a potent post-TBI rehabilitative tool that can improve CF in this population and facilitate the return-to-work process. Future studies should adopt a similar design yet use fully immersive VR to enhance CF potentially to a greater degree.

Cost-effective and portable ultrasonography offers a promising approach for monitoring skeletal muscle damage and quality in many contexts. However, echogenicity analysis relies on precise transducer orientations and machine parameters, posing challenges for data pooling across different raters and settings. Muscle texture analysis offers a potential means of reducing inter-rater and machine-setting variability. Scans were assessed at nine angles, controlled using a custom transducer shell and software. Scans were performed three times, and different gains were applied. All scans were performed on a muscle tissue-mimicking phantom to eliminate biological variability. Intra-angle and intra-gain variability and internal consistency were assessed via coefficient of variation (CV%) and Cronbach's alpha (αc). Spearman's (ρ) correlations were employed to determine the relationship between echogenicity and each texture feature. Entropy (angle: CV=2.7-7.6%; gain: CV=10.5%; αc=0.86), and inverse difference moment (angle: CV=3.7-9.8%; gain: CV=16.5%; αc=0.87) were less variable than echogenicity (angle: CV=6.4-19.4%; gain: CV=39.0%; αc=0.82). Angular second moment (angle: CV=17.9-116.6%; gain: CV=71.6%; αc=0.68), contrast (angle: CV=7.8-14.7%; gain: CV=41.8%;αc=0.75), and correlation (angle: CV=9.0-13.5%; gain: CV=28.6%; αc=0.49) features were generally more variable. Entropy (ρ=0.82-0.98, p≤0.011) and inverse difference moment (ρ=-0.98--0.83, p≤0.008), were more strongly correlated with echogenicity than angular second moment (ρ=-0.98--0.77, p≤0.016), contrast (ρ=0.53-0.98, p≤0.15), and correlation (ρ=-0.25--0.19, p=0.520-0.631). Entropy and inverse difference moment features may allow data sharing between laboratory and clinical settings with ultrasound machine parameters and raters of varying skill levels. Clinical and mechanistic studies are required to determine if texture features can replace echogenicity assessments.

Pelvic Floor Disorders (PFDs) are a group of disorders of the female reproductive system that can cause a variety of problems for women. PFDs can include Urinary Incontinence (UI) and Pelvic Organ Prolapse (POP). This study evaluated the association between mediolateral episiotomy during pregnancy and POP in patients. A cross-sectional study with prospective follow-up was conducted on 150 pregnant women admitted for vaginal delivery at Furqani Hospital in Qom, Iran. Participants were divided into episiotomy and non-episiotomy groups based on clinical indications. Pelvic organ prolapse was assessed using the Pelvic Organ Prolapse Quantification (POP-Q) system at baseline and 3-6 months postpartum. Data were analyzed using SPSS version 26, with a significance level of 0.05. The study included 142 patients with a mean age of 29.67 years. No significant differences were observed in demographic or clinical variables between the episiotomy and non-episiotomy groups at baseline. Postpartum, the episiotomy group showed significant improvements in cystocele severity (P=0.038), rectocele severity (P=0.026), apical prolapse (P=0.011), levator tone (P=0.016), and perineal descent (P=0.016). However, the cough test results did not differ significantly (P=0.052). Mediolateral episiotomy during vaginal delivery was associated with reduced severity of POP and improved PFD. These findings suggest a potential protective effect of episiotomy against certain pelvic floor complications, although further studies with larger sample sizes and longer follow-up periods are needed to confirm these results.

Excess body weight is associated with increased mortality, low physical fitness and low levels of physical activity. The objective this study to verify the linear and nonlinear (quadratic) relationships between Body Mass Index (BMI) and lower limb strength in children and adolescents of both sexes in a region of Chile. A descriptive (cross-sectional) study was carried out in children and adolescents of school age (6 to 17 years) of both sexes. The sample size was 863 schoolchildren (500 males and 363 females). Weight, height and the Horizontal Jump test (HJ) were evaluated. BMI and BMI z -score were calculated according to age and sex. In males, the explanatory power in the linear model [R= 0.15, R2= 0.02, Root Mean Square Error (RMSE)= 39.6] is lower than the non-linear quadratic model (R= 0.22, R2= 0.05, RMSE= 39.0). In females, the explanatory power in the linear model (R= 0.12, R2= 0.02, RMSE= 23.2) is lower than the quadratic nonlinear model (R= 0.19, R2= 0.04, RMSE= 22.9). In the BMI z-score scale, males presented HJ values of: [Low BMI 145.4±39.5cm, normal 164.2±33.6cm, and high BMI 109.0±23.2cm]. In females it was: [Low BMI 108.0±23.0cm, normal 113.5±36.3cm, and elevated BMI 91.5±30.4cm].  The study verified a curvilinear relationship in the form of a parabola (quadratic) between BMI and the HJ test in children and adolescents of both sexes. Schoolchildren in the extreme BMI categories (low and high BMI) reflected low performance in the HJ in relation to school-children with normal BMI.

Dear Editor, We were interested to read the article by Amergoolov et al. on two patients with Kearns-Sayre Syndrome (KSS) due to single mtDNA deletions who had phenotypic endocrine disorders among other features.1 Patient 1, a 20-year-old female, was diagnosed with hypogonadism, diabetes and osteoporosis, and patient 2, a 22-year-old male, was diagnosed with impaired glucose tolerance and osteoporosis.1 It was found that the severity of clinical manifestations increases with the size of the mtDNA deletion, but that other factors such as heteroplasmy, mtDNA duplications or pleioplasmia can also determine the severity of the disease.1 The study is impressive, but some points should be discussed. [...].

Objective: To report on a patient with hypermobile Ehlers-Danlos syndrome (EDS) with SFN in whom frequent dislocations during sleep led to sleep deprivation.

Case report: The patient is a 19-year-old female with hypermobile EDS manifested by frequent dislocations of large joints and small fiber neuropathy (SFN) presenting as recurrent syncope. The dislocations occurred spontaneously or triggered by voluntary or involuntary movements with such frequency, even during the night, that sleep was disturbed. The maximum sleep duration was between 4 and 5 hours. Bedding, analgesics, muscle relaxants and physiotherapy only marginally improved the pain and discomfort caused by the dislocations.

Conclusions: This case demonstrates that hypermobile EDS can manifest phenotypically with insomnia due to pain and discomfort from frequent dislocations during the night. Patients with hypermobile EDS should undergo polysomnography to determine the cause of the sleep disturbance and initiate the most appropriate treatment for insomnia in a timely manner.

Dear Editor, We read with interest the article by Burtscher et al. on hand grip strength measured with a hand dynamometer at various locations along Tyrolean ski slopes in 757 recreational skiers compared to 1021 community residents.1 Most of the male subjects and half of the female subjects had higher grip strength of the dominant hand compared to the control subjects.1The grip strength of the skiers decreased with age to a similar extent as that of the reference population. The relative grip strength correlated positively with physical activity and the number of skiing days per year and negatively with body weight.1 It was concluded that hand grip strength is related to the type, amount and intensity of regular physical activity and that the results support recommendations for training or rehabilitation.1 The study is noteworthy, but several points should be discussed. [...].

The summer of 2025 is approaching and the need to finalize our plans for the next few years is urgent. The next Padua Days of Muscle and Mobility Medicine (PDM3) will be held from 3 to 6 March 2026 at the Hotel Petrarca, Euganean Thermae (Padova, Italy). A preliminary flyer for 2026 PDM3 is almost ready with organizers, session schedule and keynote speakers. A new website, named Padua Muscle Days, will be soon released with all the needed information for How to Join, Registration, Accommodation, Payments and the Abstract Template for the 2026 PDM3. We hope that readers will circulate its link (www.paduamuscledays.com) among colleagues and friends. No doubt that 2026 PDM3 will be a great gift for all participants. The other novelty is the 2024 Clarivate Analytics' Impact Factor which was assigned a few days ago: 1.8. As authors who publish in other journals, but even more as reviewers, readers could contribute to making bigger a small gift. In any case, it is a gift that has been waited for decades. Four Guest Editors have done their best to make the EJTM volume 35, issue 2, 2025, a very special ssue. Indeed, it is mainly dedicated to two Thematic Sections; he first, with more works, is named Advances in Musculoskeletal and Neuromuscular Rehabilitation, by Maria Chiara Maccarone and Stefano Masiero. The second is called  Generative AI for Translational Mobility Medicine, by Giorgio Fanò-Illic and Riccardo Forni, and aims to attract works that use Digital Methods for Translational Mobility Medicine. We invite the members of the EJTM editorial board and the authors of highly cited articles to follow these examples and suggest further thematic sections for the EJTM of the next decade.

In contrast to invasive skeletal muscle biopsies and the associated complexity of tissue sampling techniques and potential detrimental side effects, the alternative application of liquid biopsy procedures has considerable advantages concerning minimal invasiveness, repeated sampling options, assay robustness and cost effectiveness. This article outlines the current status of serum biomarkers used for diagnosing and characterizing Duchenne muscular dystrophy (DMD), a primary muscle wasting disease of early childhood due to primary abnormalities in the extremely large DMD gene. Reviewed are important aspects of the discovery, characterization and diagnostic value of biofluid-based protein markers of dystrophinopathy. This includes an overview of traditional general skeletal muscle damage markers, such as creatine kinase, myoglobin and lactate dehydrogenase, which have been used for many decades in clinical applications to evaluate patients with muscular weakness. In addition, this article outlines the biochemical identification of novel biomarker candidates focusing on the usage of mass spectrometry-based proteomic surveys to establish comprehensive profiles of protein alterations in dystrophinopathy. Pathoproteomic serum markers of myonecrosis with great potential for improved patient screening, differential diagnosis, stage-specific prognosis and therapeutic monitoring include specific isoforms of muscle-derived cytosolic proteins, such as carbonic anhydrase isoform CA3 and fatty acid binding protein FABP3, as well as sarcomeric proteins, including specific isoforms of myosin light chain, myosin binding protein, troponin, and myomesin, in addition to peptide fragments derived from the giant protein titin. Biofluid-associated marker proteins of reactive myofibrosis include the extracellular matrix proteins fibronectin, osteopontin, collagen and matrix-metalloproteinases.